A new grant will allow researchers at the
Kellogg Eye Center to develop a sophisticated data management and analysis
system that could expedite the discovery of genes associated with age-related
macular degeneration (AMD).

The Elmer and Sylvia Sramek Charitable
Foundation has awarded Kellogg researchers a
four-year grant to design and create six interactive and
integrated databases that will help them extract
meaningful data from two major lines of research
underway at Kellogg: genetic studies of specific families
affected by AMD, and genomic studies that seek to identify changes in the expression of "eye" genes
during aging and as the disease progresses.

Dr. Paul Lichter, director of the Kellogg Eye
Center, says advances in genetic research in recent
years have yielded so much data that a new need
has emergedthat of managing and making sense of
the resulting data.

"We are pleased that the Sramek Foundation
has recognized this need to create the necessary
infrastructure, which will give a real boost to our
work and the emerging field of bioinformatics and microarray data management," Lichter says.
"These tools will accelerate the way toward our
ultimate goalfinding treatments and cures for a
complex and prevalent eye disease."

Dr. Anand Swaroop, professor of
ophthalmology and visual sciences and of human genetics, will
direct the study. A key component involves scanning
RNA samples for the estimated 20,000 eye-related
genes with the goal of identifying those that can be used
as candidates for susceptibility to AMD. The task
will be much faster than it would have been even a
few years ago because Kellogg, under Swaroop's
leadership, was among the first to develop a facility
for rapid-scanning miroarray technology. Kellogg
researchers have established a library of genes expressed in the retina and retinal pigment
epithelium that ultimately will yield rich data for all vision
researchers. In this phase of the study, researchers
will look for changes in gene expression that occur
during aging, and as the retinal disease progresses.

At the same time, Swaroop and his colleagues are collecting data on families
affected by AMD. Some 1,800 individuals, including 1,050 families with
AMD, have volunteered for the ongoing Kellogg study, many expressing the
desire to help future generations. Kellogg researchers collect data for
each individual, ranging from demographics and age to risk factors and
genetic data from DNA samples. The study could help to discern common
genetic patterns and identify gene candidates. Swaroop says the power
of the research will come when it is integrated with the microarray studies
and related biological research.

Each year AMD affects 1.65 million individuals
over the age of 60, and it is the leading cause of permanent vision loss
for people in that age group. It is a progressive disease that affects
central vision required to read, drive and recognize faces. The research
is critical and timely because the aging segment of the population has
increased dramatically and because current treatments benefit only a small
number of people who have wet macular degeneration, the less common form
of AMD.

Swaroop says the genetic underpinnings of
AMD are complexthat the disease probably is caused
by the interaction of multiple genes and
environmental risk factors. Family history and age are the
major risk factors, says Swaroop, who recently published
a study on the aging of the human retina. He also notes that researchers are unlikely to find a
single gene, as in the case of cystic fibrosis, that is at
the root of the disease. "The interplay of genes and
risk factors makes the collection and integration of
divergent genetic and gene expression data sets even
more crucial," Swaroop says.

Swaroop has defined a broad set of goals for
the Sramek study. "We believe that our research
will uncover essential information about the
molecular profile of the aging retina, broaden our
understanding of cellular processes in both normal and
diseased retinal tissue, and help define the mechanisms
of AMD pathogenesis," he says. "By the study's
end, we hope to have developed better tools for data
management and analysis that would facilitate
improved diagnosis, prevention, and, eventually, treatment
of this devastating disease of the elderly."

Swaroop is the director of sensory gene
microarray node and coordinator/director of the Center
for Retinal and Macular Degeneration at the
Kellogg Eye Center. The Elmer and Sylvia Sramek
Charitable Foundation, based in Chicago, was
established in 1995 to support a broad range of charitable
and educational purposes.